Linked Data
dbSNP Id:
rs2071213455
gnomAD v3:
17-7221425-CCCTAGGTCAGGAACT-C
gnomAD v4:
17-7221425-CCCTAGGTCAGGAACT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221426_7221440del , CM000679.2:g.7221426_7221440del | GRCh38 |
| NC_000017.10:g.7124745_7124759del , CM000679.1:g.7124745_7124759del | GRCh37 |
| NC_000017.9:g.7065469_7065483del | NCBI36 |
| NG_007975.1:g.6593_6607del | |
| NG_008391.2:g.3611_3625del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.478-112_478-98del MANE Select | ENSP00000349297.5:n.478-112_478-98del | |
| ENST00000322910.9:c.*433-112_*433-98del | ENSP00000325395.5:n.*433-112_*433-98del | |
| ENST00000350303.9:c.412-112_412-98del | ENSP00000344152.5:n.412-112_412-98del | |
| ENST00000356839.9:c.478-112_478-98del | ENSP00000349297.5:n.478-112_478-98del | |
| ENST00000543245.6:c.547-112_547-98del | ENSP00000438689.2:n.547-112_547-98del | |
| ENST00000577191.5:n.555-112_555-98del | ||
| ENST00000577433.5:n.686-112_686-98del | ||
| ENST00000577857.5:n.294-112_294-98del | ||
| ENST00000579286.5:n.659-112_659-98del | ||
| ENST00000579886.2:c.316-112_316-98del | ENSP00000463246.1:n.316-112_316-98del | |
| ENST00000580365.1:n.209-112_209-98del | ||
| ENST00000581378.5:c.177-93_177-79del | ||
| ENST00000581562.5:n.524+368_524+382del | ||
| ENST00000582166.1:n.459-112_459-98del | ||
| ENST00000583312.5:c.478-112_478-98del | ENSP00000467920.1:n.478-112_478-98del | |
| ENST00000583760.1:n.148_162del | ||
| NM_000018.3:c.478-112_478-98del | NP_000009.1:n.478-112_478-98del | |
| NM_001033859.2:c.412-112_412-98del | NP_001029031.1:n.412-112_412-98del | |
| NM_001270447.1:c.547-112_547-98del | NP_001257376.1:n.547-112_547-98del | |
| NM_001270448.1:c.250-112_250-98del | NP_001257377.1:n.250-112_250-98del | |
| XM_006721516.2:c.478-112_478-98del | XP_006721579.2:n.478-112_478-98del | |
| XM_011523829.1:c.478-112_478-98del | XP_011522131.1:n.478-112_478-98del | |
| XM_011523830.1:c.478-112_478-98del | XP_011522132.1:n.478-112_478-98del | |
| XR_934021.1:n.585-112_585-98del | ||
| XR_934022.1:n.585-112_585-98del | ||
| XR_934023.1:n.585-112_585-98del | ||
| XM_006721516.3:c.478-112_478-98del | XP_006721579.2:n.478-112_478-98del | |
| XM_011523829.2:c.478-112_478-98del | XP_011522131.1:n.478-112_478-98del | |
| XM_011523830.2:c.478-112_478-98del | XP_011522132.1:n.478-112_478-98del | |
| XM_024450741.1:c.478-112_478-98del | XP_024306509.1:n.478-112_478-98del | |
| XR_934021.2:n.537-112_537-98del | ||
| XR_934022.2:n.537-112_537-98del | ||
| XR_934023.2:n.537-112_537-98del | ||
| NM_000018.4:c.478-112_478-98del MANE Select | NP_000009.1:n.478-112_478-98del | |
| NM_001033859.3:c.412-112_412-98del | NP_001029031.1:n.412-112_412-98del | |
| NM_001270447.2:c.547-112_547-98del | NP_001257376.1:n.547-112_547-98del | |
| NM_001270448.2:c.250-112_250-98del | NP_001257377.1:n.250-112_250-98del |